SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2493799970 TPP1 Health Risk Pathogenic —
RS2493800007 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493800029 TPP1 Health Risk Pathogenic —
RS2493800050 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493800139 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493800333 TPP1 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 2, Autosomal recessive spinocerebellar ataxia 7
RS2493800449 TPP1 Health Risk Pathogenic —
RS2493800491 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493800542 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493800555 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493800618 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493800895 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493800963 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493801952 TPP1 Health Risk Pathogenic —
RS2493801988 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493802055 TPP1 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493802191 TPP1 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 2, Neuronal ceroid lipofuscinosis 2
RS2493803105 TPP1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2493803501 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493803771 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493804047 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493804110 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493804143 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493804165 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493804168 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493804273 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493805222 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493805239 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS2493805405 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493805420 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493805504 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2493805665 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493805738 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493806137 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493806255 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493806280 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493806373 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493806489 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493806753 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493806963 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493807198 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493807418 CDH23 Health Risk Likely pathogenic —
RS2493807497 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493807508 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493807719 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493807887 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493808218 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493809648 DCHS1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2493810553 BICC1 Health Risk Conflicting classifications of pathogenicity Renal dysplasia, cystic
RS2493813438 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type A
RS2493813577 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2493813796 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493813892 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493814068 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493814313 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493814324 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493814875 DCHS1 Health Risk Pathogenic —
RS2493815701 CDH23 Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 1D
RS2493816487 DCHS1 Health Risk Likely pathogenic —
RS2493816545 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493816593 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493816636 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493816828 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493816889 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493816928 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493817033 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493817085 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493817148 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493817237 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493817489 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493819327 DCHS1 Health Risk Pathogenic —
RS2493819657 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493819725 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493819793 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493820064 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493820319 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493820452 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493820472 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493820709 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493820717 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493820770 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2493821002 CDH23 Health Risk Pathogenic —
RS2493821059 CDH23 Health Risk Pathogenic —
RS2493821283 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2493821808 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493822055 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2493822223 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493822373 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493822633 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493823249 DCHS1 Health Risk Likely pathogenic —
RS2493823379 CTSD Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493823426 SMPD1 Health Risk Likely pathogenic Sphingomyelin/cholesterol lipidosis, Sphingomyelin/cholesterol lipidosis
RS2493823444 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493823481 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493823533 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493823558 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2493823652 CTSD Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS2493823785 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2493823963 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2493824186 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
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